Variant report

Variant	rs9943850
Chromosome Location	chr12:65063971-65063972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65039325..65042042-chr12:65062487..65065547,3	K562	blood:
2	chr12:65019301..65021176-chr12:65062867..65064609,2	K562	blood:
3	chr12:65054936..65056811-chr12:65063750..65065750,2	MCF-7	breast:
4	chr12:65061393..65063543-chr12:65063755..65066081,2	MCF-7	breast:
5	chr12:65046317..65048148-chr12:65063094..65065248,2	K562	blood:
6	chr12:65057089..65063734-chr12:65063788..65069344,8	K562	blood:
7	chr12:64844874..64846607-chr12:65061898..65064676,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183735	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11175499	0.84[AFR][1000 genomes]
rs17100518	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17100533	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60448921	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7296498	0.92[ASW][hapmap];0.93[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs73321706	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73321743	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73321794	0.88[AFR][1000 genomes]
rs7955980	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65058200-65064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:65058400-65069600	Enhancers	Small Intestine	intestine
3	chr12:65058800-65066600	Enhancers	Stomach Mucosa	stomach
4	chr12:65058800-65070000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr12:65059000-65065800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:65059400-65065200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:65059400-65066000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:65059400-65068800	Enhancers	Fetal Intestine Large	intestine
9	chr12:65059600-65064600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:65060000-65073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:65060200-65069200	Weak transcription	Osteobl	bone
12	chr12:65060400-65065600	Enhancers	Spleen	Spleen
13	chr12:65060600-65066400	Weak transcription	Brain Anterior Caudate	brain
14	chr12:65060800-65064600	Weak transcription	HSMMtube	muscle
15	chr12:65060800-65066400	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:65061000-65064800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:65061400-65064000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:65061400-65064000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:65061600-65067600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:65061800-65066200	Weak transcription	Ovary	ovary
21	chr12:65061800-65069800	Enhancers	Fetal Intestine Small	intestine
22	chr12:65062000-65065600	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr12:65062200-65065200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:65062600-65065200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:65062600-65065200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:65062600-65068200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:65062600-65069600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:65062600-65070000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:65062600-65071600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:65062800-65064000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr12:65062800-65064000	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr12:65062800-65064200	Flanking Active TSS	GM12878-XiMat	blood
33	chr12:65062800-65064400	Flanking Active TSS	Dnd41	blood
34	chr12:65062800-65064400	Enhancers	Hela-S3	cervix
35	chr12:65062800-65065000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:65062800-65065000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:65062800-65065200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr12:65062800-65065400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr12:65062800-65065400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr12:65062800-65065600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:65062800-65065800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:65062800-65067600	Enhancers	HMEC	breast
43	chr12:65062800-65068600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr12:65062800-65068600	Enhancers	Fetal Lung	lung
45	chr12:65063000-65064000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:65063000-65064000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:65063000-65064000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:65063000-65064000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr12:65063000-65064000	Enhancers	Fetal Kidney	kidney
50	chr12:65063000-65064000	Flanking Active TSS	Fetal Thymus	thymus

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